Human Molecular Genetics

ARTICLE

Abstract Article

Maoqing Ye, Chris Coldren, Xingqun Liang, Teresa Mattina, Elizabeth Goldmuntz, D. Woodrow Benson, Dunbar Ivy, M.B. Perryman, Lee Ann Garrett-Sinha, and Paul Grossfeld
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice
Human Molecular Genetics Advance Access published on November 26, 2009.
doi:10.1093/hmg/ddp532
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Abstract Article Benjamin P. Fairfax, Fredrik Vannberg, Jayachandran Radhakrishnan, Hakon Hakonarson, Brendan J. Keating, Adrian V. S. Hill, and Julian C. Knight An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6 Human Molecular Genetics Advance Access published on November 26, 2009. doi:10.1093/hmg/ddp530 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article

Karin Hek, Cornelis L. Mulder, Hendrika J. Luijendijk, Cornelia M. van Duijn, Albert Hofman, André G. Uitterlinden, and Henning Tiemeier
The PCLO gene and depressive disorders: replication in a population-based study
Human Molecular Genetics Advance Access published on November 26, 2009.
doi:10.1093/hmg/ddp529
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Abstract Article

Matthew E.R. Butchbach, Jasbir Singh, Margrét Þorsteinsdóttir, Luciano Saieva, Elzbieta Slominski, John Thurmond, Thorkell Andrésson, Jun Zhang, Jonathan D. Edwards, Louise R. Simard, Livio Pellizzoni, Jill Jarecki, Arthur H.M. Burghes, and Mark E. Gurney
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
Human Molecular Genetics Advance Access published on November 25, 2009.
doi:10.1093/hmg/ddp510
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Abstract Article

Sonia Clavero, David F. Bishop, Mark E. Haskins, Urs Giger, Raili Kauppinen, and Robert J. Desnick
Feline Acute Intermittent Porphyria: A phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
Human Molecular Genetics Advance Access published on November 24, 2009.
doi:10.1093/hmg/ddp525
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Abstract Article

Jeong-Ki Kim, Eunmin Kim, In-Cheol Baek, Bong-Kyu Kim, A-Ri Cho, Tae-Yoon Kim, Chang-Woo Song, Je Kyung Seong, Jong-Bok Yoon, Kurt S. Stenn, Satish Parimoo, and Sungjoo Kim Yoon
Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis
Human Molecular Genetics Advance Access published on November 23, 2009.
doi:10.1093/hmg/ddp509
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Abstract Article

Gelareh Mazarei, Scott J. Neal, Kristina Becanovic, Ruth Luthi-Carter, Elizabeth M. Simpson, and Blair R. Leavitt
Expression analysis of novel striatal-enriched genes in Huntington disease
Human Molecular Genetics Advance Access published on November 23, 2009.
doi:10.1093/hmg/ddp527
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Abstract Article Ihn Sik Seong, Juliana M. Woda, Ji-Joon Song, Alejandro Lloret, Priyanka D. Abeyrathne, Caroline J. Woo, Gillian Gregory, Jong-Min Lee, Vanessa C. Wheeler, Thomas Walz, Robert E. Kingston, James F. Gusella, Ronald A. Conlon, and Marcy E. MacDonald Huntingtin facilitates polycomb repressive complex 2 Human Molecular Genetics Advance Access published on November 23, 2009. doi:10.1093/hmg/ddp524 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article

Francesc Calafell, Laura Almasy, Maria Sabater-Lleal, Alfonso Buil, Carolina Mordillo, Anna Ramírez-Soriano, Martin Sikora, Juan Carlos Souto, John Blangero, Jordi Fontcuberta, and José Manuel Soria
SEQUENCE VARIATION AND GENETIC EVOLUTION AT THE HUMAN F12 LOCUS: MAPPING QUANTITIVE TRAIT NUCLEOTIDES THAT INFLUENCE FXII PLASMA LEVELS
Human Molecular Genetics Advance Access published on November 23, 2009.
doi:10.1093/hmg/ddp517
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Abstract Article

Judith Blanz, Johann Groth, Christina Zachos, Christina Wehling, Paul Saftig, and Michael Schwake
Disease causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase
Human Molecular Genetics Advance Access published on November 20, 2009.
doi:10.1093/hmg/ddp523
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Abstract Article

Peter J. Castaldi, Michael H. Cho, Matthew Cohn, Fawn Langerman, Sienna Moran, Nestor Tarragona, Hala Moukhachen, Radhika Venugopal, Delvina Hasimja, Esther Kao, Byron Wallace, Craig P. Hersh, Sachin Bagade, Lars Bertram, Edwin K. Silverman, and Thomas A. Trikalinos
The COPD Genetic Association Compendium: A Comprehensive Online Database of COPD Genetic Associations
Human Molecular Genetics Advance Access published on November 20, 2009.
doi:10.1093/hmg/ddp519
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Abstract Article

Juan Carlos Polanco, Dagmar Wilhelm, Tara-Lynne Davidson, Deon Knight, and Peter Koopman
Sox10 gain-of-function causes XX sex reversal in mice: Implications for human 22q-linked disorders of sex development
Human Molecular Genetics Advance Access published on November 20, 2009.
doi:10.1093/hmg/ddp520
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Abstract Article

Monica Y. Lee, Sean M. Garvey, Alex S. Baras, Julia A. Lemmon, Maria F. Gomez, Pamela D. Schoppee Bortz, Guenter Daum, Renee C. LeBoeuf, and Brian R. Wamhoff
Integrative genomics identifies DSCR1 (RCAN1) as a novel NFAT-dependent mediator of phenotypic modulation in vascular smooth muscle cells
Human Molecular Genetics Advance Access published on November 19, 2009.
doi:10.1093/hmg/ddp511
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Abstract Article

Nick Patterson, Desiree C. Petersen, Richard E. van der Ross, Herawati Sudoyo, Richard H. Glashoff, Sangkot Marzuki, David Reich, and Vanessa M. Hayes
Genetic structure of a unique admixed population: implications for medical research
Human Molecular Genetics Advance Access published on November 18, 2009.
doi:10.1093/hmg/ddp505
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Abstract Article

David R. Karp, Nishanth Marthandan, Steven G. E. Marsh, Chul Ahn, Frank C. Arnett, David S. DeLuca, Alexander D. Diehl, Raymond Dunivin, Karen Eilbeck, Michael Feolo, Paula A. Guidry, Wolfgang Helmberg, Suzanna Lewis, Maureen D. Mayes, Chris Mungall, Darren A. Natale, Bjoern Peters, Effie Petersdorf, John D. Reveille, Barry Smith, Glenys Thomson, Matthew J. Waller, and Richard H. Scheuermann
Novel Sequence Feature Variant Type Analysis of the HLA Genetic Association in Systemic Sclerosis
Human Molecular Genetics Advance Access published on November 18, 2009.
doi:10.1093/hmg/ddp521
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Abstract Article John R.B. Perry, Michael N. Weedon, Claudia Langenberg, Anne U. Jackson, Valeriya Lyssenko, Thomas Sparsø, Gudmar Thorleifsson, Harald Grallert, Luigi Ferrucci, Marcello Maggio, Giuseppe Paolisso, Mark Walker, Colin N. A. Palmer, Felicity Payne, Elizabeth Young, Christian Herder, Narisu Narisu, Mario A. Morken, Lori L. Bonnycastle, Katharine R. Owen, Beverley Shields, Beatrice Knight, Amanda Bennett, Christopher J. Groves, Aimo Ruokonen, Marjo Riitta Jarvelin, Ewan Pearson, Laura Pascoe, Ele Ferrannini, Stefan R. Bornstein, Heather M. Stringham, Laura J. Scott, Johanna Kuusisto, Peter Nilsson, Malin Neptin, Anette P. Gjesing, Charlotta Pisinger, Torsten Lauritzen, Annelli Sandbaek, Mike Sampson, MAGIC, Ele Zeggini, Cecilia M. Lindgren, Valgerdur Steinthorsdottir, Unnur Thorsteinsdottir, Torben Hansen, Peter Schwarz, Thomas Illig, Markku Laakso, Kari Stefansson, Andrew D. Morris, Leif Groop, Oluf Pedersen, Michael Boehnke, Inês Barroso, Nicholas J. Wareham, Andrew T. Hattersley, Mark I. McCarthy, and Timothy M. Frayling Genetic evidence that raised Sex Hormone Binding Globulin (SHBG) levels reduce the risk of type 2 diabetes Human Molecular Genetics Advance Access published on November 18, 2009. doi:10.1093/hmg/ddp522 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article

Haiyang Chen, Zhonghua Liu, and Xun Huang
Drosophila models of peroxisomal biogenesis disorder: Peroxins are required for spermatogenesis and very long chain fatty acid metabolism
Human Molecular Genetics Advance Access published on November 17, 2009.
doi:10.1093/hmg/ddp518
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Abstract Article

Xiao-Fei Kong, Guillaume Vogt, Ariane Chapgier, Christophe Lamaze, Jacinta Bustamante, Carolina Prando, Anny Fortin, Anne Puel, Jacqueline Feinberg, Xin-Xin Zhang, Pauline Gonnord, Ulla M. Pihkala-Saarinen, Mikko Arola, Petra Moilanen, Laurent Abel, Matti Korppi, Stéphanie Boisson-Dupuis, and Jean-Laurent Casanova
A novel form of cell type-specific partial IFN-R1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
Human Molecular Genetics Advance Access published on November 16, 2009.
doi:10.1093/hmg/ddp507
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Abstract Article Mitsutoshi Yamada, Toshio Hamatani, Hidenori Akutsu, Nana Chikazawa, Naoaki Kuji, Yasunori Yoshimura, and Akihiro Umezawa Involvement of a novel preimplantation-specific gene encoding the high mobility group box protein Hmgpi in early embryonic development Human Molecular Genetics Advance Access published on November 14, 2009. doi:10.1093/hmg/ddp512 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article Stuart J. Rabin, Jae Mun ‘Hugo’ Kim, Michael Baughn, Ryan T. Libby, Young Joo Kim, Yuxin Fan, Randell T. Libby, Albert La Spada, Brad Stone, and John Ravits Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology Human Molecular Genetics Advance Access published on November 13, 2009. doi:10.1093/hmg/ddp498 Corrected Proof [Abstract] [Full Text] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article Rebecca Hardy, Andrew K. Wills, Andrew Wong, Cathy E. Elks, Nicholas J. Wareham, Ruth J.F. Loos, Diana Kuh, and Ken K. Ong Life course variations in the associations between FTO and MC4R gene variants and body size Human Molecular Genetics Advance Access published on November 12, 2009. doi:10.1093/hmg/ddp504 Corrected Proof [Abstract] [Full Text] [PDF]     OPEN ACCESS ARTICLE

Abstract Article

M. D'Aurelio, C. Vives-Bauza, M.M. Davidson, and G. Manfredi
Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells
Human Molecular Genetics Advance Access published on November 12, 2009.
doi:10.1093/hmg/ddp503
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Abstract Article

Lyndsay M. Murray, Sheena Lee, Dirk Bäumer, Simon H. Parson, Kevin Talbot, and Thomas H. Gillingwater
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
Human Molecular Genetics Advance Access published on November 11, 2009.
doi:10.1093/hmg/ddp506
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Abstract Article

David Cunningham, Tiffany Talabere, Natalie Bir, Matthew Kennedy, Kim L. McBride, and Gail E. Herman
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
Human Molecular Genetics Advance Access published on November 11, 2009.
doi:10.1093/hmg/ddp502
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Abstract Article

Dolores Garcia-Arocena, Jane E. Yang, Judith R. Brouwer, Flora Tassone, Christine Iwahashi, Elizabeth M. Berry-Kravis, Christopher G. Goetz, Allison M. Sumis, Lili Zhou, Danh V. Nguyen, Luis Campos, Erin Howell, Anna Ludwig, Claudia Greco, Rob Willemsen, Randi J. Hagerman, and Paul J. Hagerman
Fibroblast phenotype in male carriers of FMR1 premutation alleles
Human Molecular Genetics Advance Access published on November 11, 2009.
doi:10.1093/hmg/ddp497
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Abstract Article

Di Sha, Lih-Shen Chin, and Lian Li
Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF-B signaling
Human Molecular Genetics Advance Access published on November 11, 2009.
doi:10.1093/hmg/ddp501
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Abstract Article

Joanne Betts-Henderson, Stefano Bartesaghi, Moira Crosier, Susan Lindsay, Hai-Lan Chen, Paolo Salomoni, Irene Gottlob, and Pierluigi Nicotera
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
Human Molecular Genetics Advance Access published on November 11, 2009.
doi:10.1093/hmg/ddp500
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Abstract Article

Sébastien Leidgens, Sébastien De Smet, and Françoise Foury
Frataxin interacts with Isu1 through a conserved tryptophan in its β-sheet
Human Molecular Genetics Advance Access published on November 11, 2009.
doi:10.1093/hmg/ddp495
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Abstract Article

Francisco J. del Castillo, Martine Cohen-Salmon, Anne Charollais, Dorothée Caille, Paul D. Lampe, Philippe Chavrier, Paolo Meda, and Christine Petit
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins
Human Molecular Genetics Advance Access published on November 11, 2009.
doi:10.1093/hmg/ddp490
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Abstract Article

Jianlin Zhang, Amanda Felder, Yujie Liu, Ling T. Guo, Stephan Lange, Nancy D. Dalton, Yusu Gu, Kirk L. Peterson, Andrew P. Mizisin, G. Diane Shelton, Richard L. Lieber, and Ju Chen
Nesprin 1 is critical for nuclear positioning and anchorage
Human Molecular Genetics Advance Access published on November 9, 2009.
doi:10.1093/hmg/ddp499
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Abstract Article

Ming Ye, Karyn M. Berry-Wynne, Mika Asai-Coakwell, Periasamy Sundaresan, Tim Footz, Curtis R. French, Marc Abitbol, Valerie C. Fleisch, Nathan Corbett, W. Ted Allison, Garry Drummond, Michael A. Walter, T. Michael Underhill, Andrew J. Waskiewicz, and Ordan J. Lehmann
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies
Human Molecular Genetics Advance Access published on November 9, 2009.
doi:10.1093/hmg/ddp496
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Abstract Article

Arne S. Schaefer, Gesa M. Richter, Michael Nothnagel, Thomas Manke, Henrik Dommisch, Gunnar Jacobs, Alexander Arlt, Philip Rosenstiel, Barbara Noack, Birte Groessner-Schreiber, Søren Jepsen, Bruno G. Loos, and Stefan Schreiber
A Genome-wide Association Study Identifies GLT6D1 as a Susceptibility Locus for Periodontitis
Human Molecular Genetics Advance Access published on November 6, 2009.
doi:10.1093/hmg/ddp508
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Abstract Article

Pim van der Harst, Stephan J.L. Bakker, Rudolf A. de Boer, Bruce H.R. Wolffenbuttel, Toby Johnson, Mark J. Caulfield, and Gerjan Navis
Replication of the 5 Novel Loci for Uric Acid Concentrations and Potential Mediating Mechanisms
Human Molecular Genetics Advance Access published on October 27, 2009.
doi:10.1093/hmg/ddp489
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Abstract Article

Weizhong Chang, Aileen M. Barnes, Wayne A. Cabral, Joann N. Bodurtha, and Joan C. Marini
Prolyl 3-Hydroxylase 1 and CRTAP are Mutually Stabilizing in the Endoplasmic Reticulum Collagen Prolyl 3-Hydroxylation Complex
Human Molecular Genetics Advance Access published on October 21, 2009.
doi:10.1093/hmg/ddp481
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Abstract Article

Yucui Chen, Flora Tassone, Robert F. Berman, Paul J. Hagerman, Randi J. Hagerman, Rob Willemsen, and Isaac N. Pessah
Murine Hippocampal Neurons Expressing Fmr1 gene Premutations Show Early Developmental Deficits and Late Degeneration
Human Molecular Genetics Advance Access published on October 21, 2009.
doi:10.1093/hmg/ddp479
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Abstract Article

Sacha Reichman, Ravi Kiran Reddy Kalathur, Sophie Lambard, Najate Ait-Ali, Yanjiang Yang, Aurélie Lardenois, Raymond Ripp, Olivier Poch, Donald J. Zack, José-Alain Sahel, and Thierry Léveillard
THE HOMEOBOX GENE CHX10/VSX2 REGULATES RDCVF PROMOTER ACTIVITY IN THE INNER RETINA
Human Molecular Genetics Advance Access published on October 20, 2009.
doi:10.1093/hmg/ddp484
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Abstract Article Deepak Adhikari, Wenjing Zheng, Yan Shen, Nagaraju Gorre, Tuula Hämäläinen, Austin J. Cooney, Ilpo Huhtaniemi, Zi-Jian Lan, and Kui Liu Tsc/mTORC1 signaling in oocytes governs the quiescence and activation of primordial follicles Human Molecular Genetics Advance Access published on October 20, 2009. doi:10.1093/hmg/ddp483 Accepted Manuscript [Abstract] [PDF]     OPEN ACCESS ARTICLE

Abstract Article

Christopher P. Reina, Xiaoyan Zhong, and Randall N. Pittman
Proteotoxic stress increases nuclear localization of ataxin-3
Human Molecular Genetics Advance Access published on October 19, 2009.
doi:10.1093/hmg/ddp482
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Abstract Article

Christoph Loenarz, Wei Ge, Mathew L. Coleman, Nathan R. Rose, Christopher D. O. Cooper, Robert J. Klose, Peter J. Ratcliffe, and Christopher J. Schofield
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an N-dimethyl lysine demethylase
Human Molecular Genetics Advance Access published on October 19, 2009.
doi:10.1093/hmg/ddp480
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Abstract Article

Alexandre Janer, Andreas Werner, Junko Takahashi-Fujigasaki, Aurélie Daret, Hiroto Fujigasaki, Koji Takada, Charles Duyckaerts, Alexis Brice, Anne Dejean, and Annie Sittler
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7
Human Molecular Genetics Advance Access published on October 19, 2009.
doi:10.1093/hmg/ddp478
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Abstract Article

Hua Yang, Sonja Brosel, Rebeca Acin-Perez, Vesna Slavkovich, Ichizo Nishino, Raffay Khan, Ira J. Goldberg, Joseph Graziano, Giovanni Manfredi, and Eric A. Schon
Analysis of mouse models of cytochrome c oxidase deficiency due to mutations in Sco2
Human Molecular Genetics Advance Access published on October 16, 2009.
doi:10.1093/hmg/ddp477
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Abstract Article Amy S. Leonardson, Jun Zhu, Yanqing Chen, Kai Wang, John R. Lamb, Marc Reitman, Valur Emilsson, and Eric E. Schadt The effect of food intake on gene expression in human peripheral blood Human Molecular Genetics Advance Access published on October 16, 2009. doi:10.1093/hmg/ddp476 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article

Marie-Anne Colle, Françoise Piguet, Lise Bertrand, Sylvie Raoul, Ivan Bieche, Laurence Dubreil, Didi Sloothaak, Céline Bouquet, Philippe Moullier, Patrick Aubourg, Yan Cherel, Nathalie Cartier, and Caroline Sevin
EFFICIENT INTRACEREBRAL DELIVERY OF AAV5 VECTOR ENCODING HUMAN ARSA IN NON-HUMAN PRIMATE
Human Molecular Genetics Advance Access published on October 16, 2009.
doi:10.1093/hmg/ddp475
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Abstract Article Maikel L. Colli, Fabrice Moore, Esteban N. Gurzov, Fernanda Ortis, and Decio L. Eizirik MDA5 and PTPN2, two candidate genes for type 1 diabetes, modify pancreatic β-cell responses to the viral by-product double stranded RNA Human Molecular Genetics Advance Access published on October 13, 2009. doi:10.1093/hmg/ddp474 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article Graham A. Heap, Jennie H.M. Yang, Kate Downes, Barry C. Healy, Karen A. Hunt, Nicholas Bockett, Lude Franke, Patrick C. Dubois, Charles A. Mein, Richard J. Dobson, Thomas J. Albert, Matthew J. Rodesch, David G. Clayton, John A. Todd, David A. van Heel, and Vincent Plagnol Genome-wide analysis of allelic expression imbalance in human primary cells by high throughput transcriptome resequencing Human Molecular Genetics Advance Access published on October 13, 2009. doi:10.1093/hmg/ddp473 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article

Laura A. Hecker, Albert O. Edwards, Euijung Ryu, Nirubol Tosakulwong, Keith H. Baratz, William L. Brown, Peter Charbel Issa, Hendrik P. Scholl, Beatrix Pollok-Kopp, Katharina E. Schmid-Kubista, Kent R. Bailey, and Martin Oppermann
Genetic control of the alternative pathway of complement in humans and age-related macular degeneration
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp472
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Abstract Article

Keikichi Takahashi, Kayo Adachi, Kaichi Yoshizaki, Shohko Kunimoto, Raj N. Kalaria, and Atsushi Watanabe
Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp468
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Abstract Article Kirupa Sathasivam, Amin Lane, Justin Legleiter, Alice Warley, Ben Woodman, Steve Finkbeiner, Paolo Paganetti, Paul J. Muchowski, Stuart Wilson, and Gillian P. Bates Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease Human Molecular Genetics Advance Access published on October 12, 2009. doi:10.1093/hmg/ddp467 Accepted Manuscript [Abstract] [PDF]     OPEN ACCESS ARTICLE

Abstract Article

Gerard Cantero-Recasens, César Fandos, Fanny Rubio-Moscardo, Miguel A. Valverde, and Rubén Vicente
The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress
Human Molecular Genetics Advance Access published on October 8, 2009.
doi:10.1093/hmg/ddp471
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Abstract Article

Aparna Palakodeti, Isabelle Lucas, Yanwen Jiang, David J. Young, Anthony A. Fernald, Theodore Karrison, and Michelle M. Le Beau
Impaired Replication Dynamics at the FRA3B Common Fragile Site
Human Molecular Genetics Advance Access published on October 8, 2009.
doi:10.1093/hmg/ddp470
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Abstract Article

Amiya K. Ghosh, Carlos A. Murga-Zamalloa, Lansze Chan, Peter F. Hitchcock, Anand Swaroop, and Hemant Khanna
Human retinopathy-associated ciliary protein Retinitis Pigmentosa GTPase Regulator (RPGR) regulates cilia-dependent vertebrate development
Human Molecular Genetics Advance Access published on October 8, 2009.
doi:10.1093/hmg/ddp469
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Abstract Article Katarzyna A. Piróg, Oihane Jaka, Yoshihisa Katakura, Roger S. Meadows, Karl E. Kadler, Raymond P. Boot-Handford, and Michael D. Briggs A mouse model offers novel insight into the myopathy and tendinopathy that is often associated with pseudoachondroplasia and multiple epiphyseal dysplasia Human Molecular Genetics Advance Access published on October 6, 2009. doi:10.1093/hmg/ddp466 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article

Brenna A. Market-Velker, Liyue Zhang, Lauren S. Magri, Anne C. Bonvissuto, and Mellissa R.W. Mann
Dual Effects of Superovulation: Loss of maternal and paternal imprinted methylation in a dose-dependent manner
Human Molecular Genetics Advance Access published on October 4, 2009.
doi:10.1093/hmg/ddp465
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Abstract Article Lihong Zhao, Christine Rosales, Kevin Seburn, David Ron, and Susan L. Ackerman Alteration of the Unfolded Protein Response Modifies Neurodegeneration in a Mouse Model of Marinesco-Sjögren Syndrome Human Molecular Genetics Advance Access published on October 3, 2009. doi:10.1093/hmg/ddp464 Accepted Manuscript [Abstract] [PDF] [Supplementary Data]     OPEN ACCESS ARTICLE

Abstract Article

Hongyu Gao, Yan Wang, Tomasz Wegierski, Kassiani Skouloudaki, Michael Pütz, Xiao Fu, Christina Engel, Christopher Boehlke, Hongquan Peng, E. Wolfgang Kühn, Emily Kim, Albrecht Kramer-Zucker, and Gerd Walz
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation
Human Molecular Genetics Advance Access published on October 3, 2009.
doi:10.1093/hmg/ddp463
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Abstract Article

Julien Ratelade, Christelle Arrondel, Ghislaine Hamard, Serge Garbay, Scott Harvey, Nathalie Biebuyck, Herbert Schulz, Nick Hastie, Marco Pontoglio, Marie-Claire Gubler, Corinne Antignac, and Laurence Heidet
A MURINE MODEL OF DENYS-DRASH SYNDROME REVEALS NOVEL TRANSCRIPTIONAL TARGETS OF WT1 IN PODOCYTES
Human Molecular Genetics Advance Access published on September 30, 2009.
doi:10.1093/hmg/ddp462
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Article

This article was published online in error and has been removed by the publisher.
Human Molecular Genetics Advance Access published on May 3, 2007.
doi:10.1093/hmg/ddm077
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